Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1274633498
rs1274633498
1 1.000 4 139341049 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1380822792
rs1380822792
7 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0
dbSNP: rs1436993876
rs1436993876
1 1.000 4 139359833 missense variant A/G snv 4.1E-06 0.700 0
dbSNP: rs1553994814
rs1553994814
1 1.000 4 139336870 frameshift variant A/- delins 0.700 0
dbSNP: rs1553996072
rs1553996072
1 1.000 4 139351510 stop gained A/T snv 0.700 0
dbSNP: rs1553996086
rs1553996086
1 1.000 4 139351603 frameshift variant GAAA/- delins 0.700 0
dbSNP: rs1553997065
rs1553997065
1 1.000 4 139361879 stop gained T/A snv 0.700 0
dbSNP: rs1553998565
rs1553998565
1 1.000 4 139378785 stop gained A/T snv 0.700 0
dbSNP: rs202204424
rs202204424
1 1.000 4 139360513 missense variant C/T snv 8.7E-06 7.0E-06 0.700 0
dbSNP: rs779009256
rs779009256
1 1.000 4 139336947 frameshift variant AT/- del 4.3E-06 1.4E-05 0.700 0
dbSNP: rs886041097
rs886041097
9 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
dbSNP: rs889543097
rs889543097
1 1.000 4 139341001 missense variant G/A snv 0.700 0